SFEBES2008 Poster Presentations Clinical practice/governance and case reports (86 abstracts)
Guys and St Thomas NHS Foundation Trust, London, UK.
Recently updated international guidelines recommend specialist surveillance of adults with Turner Syndrome (TS). In 2005, we established a dedicated TS clinic, attracting referrals from our general endocrine service and other specialities including primary care.
Twenty-three patients currently attend of whom 9 were previously under endocrinology review. Karyotypes include 45XO (8/23), 45XO/46XrX (4/23), and 45XO/46XiXq (3/23). Mean (±S.D.) age is 34.4 (±10.7) years, height 148.5(±9.3) cm and BMI 28(±5.1) kg/m2. The most frequent original presenting complaint was primary amenorrhoea with 61% diagnosed at ≥16 years.
The following co-morbidities had been diagnosed prior to the first consultation: hypertension 3/23, type 2 diabetes 3/23, autoimmune hypothyroidism 3/23, abnormal audiometry 4/23. The following have since been discovered: hypertension 2/23, bicuspid aortic valve 4/18, aortic root diameter >32 mm 6/18 (2/6 with treated hypertension, 2/6 with a bicuspid aortic valve), autoimmune hypothyroidism 1/23 (positive antibody status in 4/19 remaining patients), abnormal liver function 10/23 (ALT and/or GGT >3×normal in 5/10), structural renal abnormalities 2/23, abnormal audiometry 3/23. No aortic coarctations were seen. As a result, 4 patients have been referred to cardiology, 3 to ENT and 1 to hepatology.
Most of our patients were either diagnosed at a relatively late age or had not previously received continuous specialist care. DEXA in 16 patients over 25 years showed median T scores of −1.6 (−3.80) at lumbar spine and −0.9 (−2.81) at left hip. The 4 patients with T score < −2.5 had either presented at >25 years of age or had not received continuous oestrogen therapy following discharge from paediatric care.
By establishing a dedicated TS clinic, we have identified a number of potentially significant asymptomatic abnormalities including increased aortic root diameter and a substantial reduction in bone mineral density. We feel that this supports the need for follow up throughout adulthood.